Conduct of Genetics Research

Every field of biology and medicine benefits from an increased understanding of human genetics. ASHG members are at the forefront of basic research on the human genome, increasing our understanding of its evolutionary history, its structure, and how it functions. ASHG members also investigate the genetic underpinnings of health and disease and how to translate new genetic discoveries into clinical advances. The Society supports robust, predictable, sustainable federal funding of biomedical research to fuel these advances while ensuring that there is support for training the next generation of geneticists and a career pathway for our future leaders in the field. The Society strongly supports the responsible and ethical conduct of research, and policies that encourage the public’s participation. It supports policies fostering broad sharing of research data to accelerate scientific discovery.

Key Issues

Research Funding
Genetics research is providing remarkable insights into the human genome and how this knowledge can be translated into healthcare advances. This scientific progress relies on the continued public investment in biomedical research. As a member of the Federation of Societies for Experimental Biology, ASHG supports the robust, predictable, sustainable federal funding of research to fuel the next scientific advances. The lack of such funding not only harms the progress of research but also makes careers in science less attractive to the next generation of potential biomedical researchers. The Society recognizes the enormous value of public support for biomedical research and believes it is imperative that taxpayer dollars are spent judiciously.

Public Participation in Research
The public is not only a major beneficiary of genetics research, but is also an invaluable partner in its pursuit by volunteering to participate in research studies. ASHG supports strong protections to ensure the rights and welfare of research participants. The Society believes it is incumbent upon researchers to minimize potential harm to participants and to be clear about potential benefits as well as risks of participation in a study. At the same time, it is important that compliance with regulations designed to protect participants is not overly burdensome for researchers and institutions.

Diversity in Genomics Research Cohorts
The lack of diversity within participant cohorts in genetics and genomics research limits our ability to study variation across the human genome and the genetic factors that influence health and disease, as well as our ability to ensure that every segment of the population is able to benefit from advances stemming from the research. The Society supports research policies that foster the recruitment of participants from diverse populations in genetics research. As more genetically tailored therapies come to market, it is important that the evidence base allows for their appropriate administration in all patients to avoid exacerbating health disparities.

Data Sharing
The Society supports policies that foster the broad sharing of scientific and clinical data. Especially in an era of big data, with an unprecedented volume of genomic and associated data being generated, it is critical that data are shared with the scientific community and healthcare professionals to accelerate scientific discovery and to inform clinical care. This data sharing deepens our understanding of variability in the human genome and the genetic underpinnings of disease, leading to advances in genomics research and genomic medicine. It also maximizes the investment of public dollars in genomics research. Data sharing must be conducted in an ethical way that respects research participants and patients, and protects their privacy.

Interface of Genomics Research and Genomic Medicine
Recent advances in DNA sequencing technologies mean that it is now possible to conduct genomic analyses, including analysis of the entire genome of an individual human, that just a few years ago would have been too costly and slow. As a result, research programs are now exploring the use of genomics for different clinical applications. A number of policy questions arise from such applications, such as when it is appropriate for researchers to share research results with participants, and how laboratories navigate regulations governing the reporting of research results to patients and their healthcare providers. The Society supports research and other initiatives that inform such questions. ASHG also believes there are important differences between clinical research and routine medical practice, and it is important for geneticists and research participants to agree when participants can expect to receive genetic information about themselves from a study.

Germline Genome Editing
Advances in gene-editing technologies now allow researchers worldwide to modify DNA sequences inside living cells quickly, cheaply, precisely, and efficiently. It is possible that genome-editing techniques could be incorporated into human-assisted reproduction and thereby introduce changes that are passed to future generations. ASHG believes that, at this time, given the nature and number of unanswered scientific, ethical, and policy questions, it is inappropriate to perform germline gene editing that culminates in human pregnancy. However, there is no reason to prohibit in vitro germline genome editing on human embryos and gametes, with appropriate oversight and consent from donors, to facilitate research on the possible future clinical applications of gene editing. There should be no prohibition on making public funds available to support this research. The future clinical application of human germline genome editing should not proceed unless, at a minimum, there is (a) a compelling medical rationale, (b) an evidence base that supports its clinical use, (c) an ethical justification, and (d) a transparent public process to solicit and incorporate stakeholder input.